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September 22, 2021

TOPIC: Press Releases, Research, Registries

Tatton Brown Rahman Syndrome Community and NORD® Launch Natural History Study of Tatton Brown Rahman Syndrome (TBRS)

Posted at September 9, 2021 08:00 am by Rohan Narayanan

Research study is open to participants worldwide to advance understanding and treatments for TBRS, a mutation of DNMT3A, causing overgrowth, autism, intellectual disabilities, orthopedic concerns, cardiac issues, and a variety of other health and developmental concerns.

Stanfordville, New York, September 21 — Tatton Brown Rahman Syndrome Community and the National Organization for Rare Disorders, Inc. today launched the largest-ever study… Read More

May 6, 2021

TOPIC: Press Releases, Patients & Members, Registries

AAMDSIF and NORD Launch New Natural History Study of Paroxysmal Nocturnal Hemoglobinuria (PNH)

Posted at May 5, 2021 10:00 am by Valaree DonFrancesco

Bethesda, MD, May 6, 2021—The Aplastic Anemia and MDS International Foundation (AAMDSIF) and the National Organization for Rare Disorders (NORD)® today launched the largest-ever study to research Paroxysmal Nocturnal Hemoglobinuria (PNH), a rare bone marrow failure disease . PNH is characterized by the destruction of red blood cells, blood clots and impaired bone marrow function. While there are treatments… Read More

March 22, 2021

TOPIC: Research, Registries

ACD and NORD Launch the CreatineInfo Registry and Natural History Study of Cerebral Creatine Deficiency Syndromes

Posted at March 3, 2021 11:41 am by Lisa Sencen

Carlsbad, CA (March 15, 2021)— The Association for Creatine Deficiencies (ACD) and the National Organization for Rare Disorders (NORD) launched the largest-ever study to research Cerebral Creatine Deficiency Syndromes (CCDS). The CCDS rare diseases, a group of inborn errors of creatine metabolism, may cause intellectual delays, expressive… Read More

March 22, 2021

TOPIC: Research, Registries

The Cute Syndrome Foundation and NORD Launch The Cute Syndrome Foundation Global SCN8A Survey Series

Posted at March 3, 2021 11:31 am by Lisa Sencen

The Cute Syndrome Foundation and the National Organization for Rare Disorders today launched a survey series to better understand patients with SCN8A mutations that cause epilepsy, movement disorders, behavioral challenges, and other medical complexities. SCN8A has been diagnosed in approximately 400 patients worldwide.

The new study, The Cute Syndrome Foundation Global… Read More