February 2019 – Page 3 – Patient Worthy

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Experimental Treatment Earns Breakthrough Therapy Designation for TK2 Deficiency, a Form of Mitochondrial Disease

Post author:James Moore
Post published:February 20, 2019
Post category:Mitochondrial Disease TK2-related mitochondrial DNA depletion syndrome

According to a story from BioSpace, the biopharmaceutical company Modis Therapeutics recently announced that the US Food and Drug Administration (FDA) has granted Breakthough Therapy designation for the company's experimental…

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67 Year Old Non-Hodgkin’s Lymphoma Patient Given Second Chance at Life After Experimental Cell Therapy

Post author:Octavia Walker
Post published:February 20, 2019
Post category:Non-Hodgkin's Lymphoma Rare Disease

A grandmother of four in Maryland has recently become the first cancer patient to complete the experimental CAR-T cell procedure at Georgetown University Hospital. Daisy Diggs 67, who was…

The Evolution of Precision Medicine in Rare Disease Research

Post author:Trudy Horsting
Post published:February 20, 2019
Post category:Rare Disease

What is Precision Medicine? In essence, precision medicine refers to the idea that in order to establish the best treatment plan for a patient, we must look at them as…

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Experimental Treatment for Macular Telangiectasia Type 2 Earns Fast Track Designation

Post author:James Moore
Post published:February 20, 2019
Post category:Rare Disease

According to a story from prnewswire.com, the biopharmaceutical company Neurotech Pharmaceuticals recently announced that the company had earned Fast Track designation from the US Food and Drug Administration (FDA). This…

Study Hopes to Improve Diagnosis of Niemann-Pick Disease and Other Rare Conditions

Post author:Trudy Horsting
Post published:February 20, 2019
Post category:Niemann-Pick Disease Rare Disease

The first step in treating rare diseases is accurately diagnosing them. Unfortunately far too many people go years without knowing what is going wrong in their body. Doctors are trained…

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Choroideremia Can Lead to Blindness – But Gene Therapy Might Be Able to Halt It

Post author:Scott Carlson
Post published:February 20, 2019
Post category:Choroideremia Spinal Muscular Atrophy

An article recently published by the Guardian shared the stories of three families affected by recent breakthroughs in gene therapy treatments. What is Gene Therapy? Gene therapy is an increasingly…

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A Painful Lesson for Which I am Grateful

Post author:Tom Seaman
Post published:February 20, 2019
Post category:Cervical Dystonia Dystonia

I have lived with pain almost my entire life. Prior to the age of 30, when I developed chronic pain from a neurological movement disorder called dystonia, I experienced pain primarily…

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New Collaborative Effort Will Test a Potential Treatment for Sanfilippo Syndrome

Post author:James Moore
Post published:February 19, 2019
Post category:Mucopolysaccharidosis Sanfilippo Syndrome

According to a story from Market Screener the biotechnology company Bioblast Pharma has announced a new partnership with Team Sanfilippo a nonprofit foundation which is committed to medical research related…

FDA Approves Venetoclax Combination For Newly Diagnosed AML in Adults 75 Years or Older

Post author:Rose Duesterwald
Post published:February 19, 2019
Post category:Acute Myeloid Leukemia

The Food and Drug Administration (FDA) recently announced its approval of Venetoclax (Venclexta) in combination with either decitabine or azacitidine (hypomethylating agents) or cytarabine (an antimetabolite) to treat adults 75 years…

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73-Year-Old Arrested by Undercover Agents for Posing as a Physician

Post author:Rose Duesterwald
Post published:February 19, 2019
Post category:Parkinson's Disease

“Doctor” Onelio Hipolit-Gonzalez has been charged with unlicensed practice of a health care profession and unlawful use of a two-way communication device according to an article published in the Spectrum News of…

New Potential Gene Therapy for Retinal Degeneration Granted ODD

Post author:Trudy Horsting
Post published:February 19, 2019
Post category:Leber Congenital Amaurosis Retinal degeneration Retinitis pigmentosa

Ocugen Pharmaceuticals has just received their first ever orphan drug designation by the FDA for a gene therapy treatment. It's called OCU400 and it's being investigated as a treatment for…

Phase 3 Study in Europe Shows Continued Positive Results for Potential New Cystic Fibrosis Treatment

Post author:Trudy Horsting
Post published:February 19, 2019
Post category:Cystic Fibrosis

Cystic Fibrosis Cystic fibrosis (CF) is a rare disease caused by the lack (or malfunctioning) of the cystic fibrosis transmembrane conductance regulator (CTFR) protein. This occurs when children inherit a mutated…

Combining Tests Improves Rate of Diagnosis for Neutropenia

Post author:Trudy Horsting
Post published:February 19, 2019
Post category:Neutropenia

Neutropenia Neutropenia is a rare condition that affects approximately 1 in every 200,000 newborns. It results in a reduced number of neutrophils in the body. Neutrophils are white blood cells,…

FDA Approves Four Novel Therapies for Acute Myeloid Leukemia

Post author:Rose Duesterwald
Post published:February 19, 2019
Post category:Acute Myeloid Leukemia

A report published in 2018 in The Hemotologist mentions the fact that most of the therapies introduced over the years for acute myeloid leukemia (AML) simply meant optimizing the use of…

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First Patient Dosed in Sanfilippo Syndrome Clinical Trial

Post author:James Moore
Post published:February 19, 2019
Post category:Mucopolysaccharidosis Sanfilippo Syndrome

According to a story from globenewswire.com, the biopharmaceutical company Lysogene and the drug developer Sarepta Therapeutics, Inc., have recently announced that the first patient has been dosed in a Phase…

University of Louisville’s Research Team Discovers Molecule That Protects Against Development of Cancer Cells

Post author:Rose Duesterwald
Post published:February 18, 2019
Post category:Cancer

The University of Louisville’s publication UL News recently reported a finding by its research team regarding an immune checkpoint molecule. The molecule had been developed for cancer immunotherapy but when…

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Online Gaming Allowed Duchenne Muscular Dystrophy Patient to Transcend Physical Limits

Post author:James Moore
Post published:February 18, 2019
Post category:Duchenne Muscular Dystrophy Rare Disease

According to a story from BBC, Mats Steen passed away at 25 years old due to complications from his Duchenne muscular dystrophy. Upon his death, parents Robert and Trude grieved…

Upcoming FREE MDS Event in Florida!

Post author:Rebekah
Post published:February 18, 2019
Post category:Event Rare Disease

Our partner, The MDS Foundation is sponsoring another free MDS Patient & Family/Caregiver Forum. This forum will take place in Jacksonville, Florida When: Saturday, March 30th, 2019 Where: Mayo Clinic Cancer…

Upcoming FREE MDS Forum in AZ!

Post author:Rebekah
Post published:February 18, 2019
Post category:Event Myelodysplastic syndromes Rare Disease

Our partner, The MDS Foundation is sponsoring another free MDS Patient & Family/Caregiver Forum. This forum will take place in Phoenix, Arizona. When: Saturday, March 9th, 2019 Where: Sheraton Crescent…

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8-Year-Old Flown to US for Surgery Dies After Rare Reaction to Anesthesia

Post author:Scott Carlson
Post published:February 18, 2019
Post category:Rare Disease

The Washington Post reported in December of last year that the 8-year-old Matadi Sela Petit had died during surgery in a Los Angeles hospital. The accident was caused by a…

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Experimental Cancer Drug Displays Potential in a Number of Rare Cancers

Post author:James Moore
Post published:February 18, 2019
Post category:Ovarian Cancer Pancreatic Cancer Rare Disease Squamous-cell carcinoma

According to a story from EurekAlert!, a new type of cancer drug that is being described as a "Trojan horse" that infiltrates cancer tumors is showing potential in several types…

Study May Lead to Earlier Diagnosis of ILD in Systemic Sclerosis

Post author:Trudy Horsting
Post published:February 18, 2019
Post category:Systemic Sclerosis

Interstitial Lung Disease in Systemic Sclerosis Systemic sclerosis (SSc), sometimes referred to as systemic scleroderma, is a rare autoimmune condition. It results in the buildup of fibrosis in the skin…

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New Potential Treatment for Cryptococcosis Granted Orphan Drug Designation

Post author:Trudy Horsting
Post published:February 18, 2019
Post category:Cryptococcosis Rare Disease

Cryptococcosis Cryptococcosis is a disease caused by the Cryptococcus fungus. It can affect the lungs, the spinal cord, or the brain. When the brain is infected, the condition is called…

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Residential Care for Prader-Willi Syndrome? This Celebrity is Considering It

Post author:James Moore
Post published:February 15, 2019
Post category:Prader-Willi Syndrome

According to a story from metro.co.uk, celebrity Katie Price, an English television personality, author, singer, and designer is reportedly considering part time residential care for her son Harvey. Harvey has…

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International Phase 2 Clinical Trial Initiated for New Potential Hypoparathyroidism Therapy

Post author:Trudy Horsting
Post published:February 15, 2019
Post category:hypoparathyroidism Rare Disease

Hypoparathyroidism Hypoparathyroidism (HP) is caused by low levels of the parathyroid hormone (PTH). Most people develop this disease after thyroid surgery as a result of accidental damage/removal of the parathyroid…

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67 Year Old Non-Hodgkin’s Lymphoma Patient Given Second Chance at Life After Experimental Cell Therapy

The Evolution of Precision Medicine in Rare Disease Research

Experimental Treatment for Macular Telangiectasia Type 2 Earns Fast Track Designation

Study Hopes to Improve Diagnosis of Niemann-Pick Disease and Other Rare Conditions

Choroideremia Can Lead to Blindness – But Gene Therapy Might Be Able to Halt It

A Painful Lesson for Which I am Grateful

New Collaborative Effort Will Test a Potential Treatment for Sanfilippo Syndrome

FDA Approves Venetoclax Combination For Newly Diagnosed AML in Adults 75 Years or Older

73-Year-Old Arrested by Undercover Agents for Posing as a Physician

New Potential Gene Therapy for Retinal Degeneration Granted ODD

Phase 3 Study in Europe Shows Continued Positive Results for Potential New Cystic Fibrosis Treatment

Combining Tests Improves Rate of Diagnosis for Neutropenia

FDA Approves Four Novel Therapies for Acute Myeloid Leukemia

First Patient Dosed in Sanfilippo Syndrome Clinical Trial

University of Louisville’s Research Team Discovers Molecule That Protects Against Development of Cancer Cells

Online Gaming Allowed Duchenne Muscular Dystrophy Patient to Transcend Physical Limits

Upcoming FREE MDS Event in Florida!

Upcoming FREE MDS Forum in AZ!

8-Year-Old Flown to US for Surgery Dies After Rare Reaction to Anesthesia

Experimental Cancer Drug Displays Potential in a Number of Rare Cancers

Study May Lead to Earlier Diagnosis of ILD in Systemic Sclerosis

New Potential Treatment for Cryptococcosis Granted Orphan Drug Designation

Residential Care for Prader-Willi Syndrome? This Celebrity is Considering It

International Phase 2 Clinical Trial Initiated for New Potential Hypoparathyroidism Therapy

Metastatic Breast Cancer: Navigating Grief

Rethinking What It Means to Live With Acromegaly

The Let’s Chat CAR T One-on-One Mentor Program: Speaking with Someone Who Understands What You Are Going Through

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