IAMRARE® - A Registry Platform by NORD®

Find a Study

Search for a Rare Disease Study

Use the search bar below to find a study about a specific disease or syndrome. Patient reports on their lived experiences are of utmost importance to the clinical researchers who rely on IAMRARE to advance discovery of new treatments. Your involvement can make a difference.

17q12 deletion and duplication syndromes

Chromosome 17q12 Deletion & Duplication Syndromes Patient Registry (17q12 Patient Registry)

Adult Polyglucosan Body Disease

APBDRF FAN Natural History Study

Albinism/HPS/CHS

Albinism International Databank

aspartylglucosaminuria

Aspartylglucosaminuria (AGU) Registry and Natural History Study

Autoimmune Polyendocrinopathy Candidiasis Ecto-dermal Dystrophy

The APS Type 1 (APECED) Registry

Autoimmune Polyglandular Syndrome Type 1

The APS Type 1 (APECED) Registry

Cerebral Creatine Deficiency Syndromes

CreatineInfo Registry

Chondrosarcoma

Chondrosarcoma Patient Registry

Chronic Inflammatory Demyelinating Polyneuropathy

GBS|CIDP Patient Registry

CLOVES Syndrome

CLOVES Syndrome Registry

Congenital Central Hypoventilation Syndrome

CCHS Network One World Registry

Creatine Transporter Deficiency

CreatineInfo Registry

Desmoid Tumor

DTRF Desmoid Tumor Patient Registry

DIDMOAD

Wolfram Syndrome Global Patient Registry

DTMT3A Overgrowth Syndrome

Tatton Brown Rahman Syndrome Community Patient Registry

EHE

Global EHE Patient Registry

Fanconi anemia

Fanconi Anemia Registry

FGFR Syndromes

FGFR Syndromes Research Registry

Fibrous Dysplasia

FD/MAS Patient Registry

Galactosemia

Galactosemia Patient Registry

Genetic Cardiomyopathy

The Genetic Cardiomyopathy Registry (GCR)

Globoid Cell Leukodystrophy

KrabbeCURES

Gorlin Syndrome

Gorlin Syndrome Alliance Patient Registry

Guanidinoacetate Methyltransferase Deficiency

CreatineInfo Registry

Guillain-Barre Syndrome

GBS|CIDP Patient Registry

HHT

HHT Connect

Hypothalamic-pituitary tumors

Hypothalamic-Pituitary Brain Tumors Patient Registry

Idiopathic Thrombocytopenic Purpura

ITP Natural History Study Registry

IPPF

International Pemphigus & Pemphigoid Foundation Natural History Registry

Kabuki Syndrome

Kabuki Syndrome Registry

KAT6A

KAT6A/KAT6B Patient Registry

KAT6B

KAT6A/KAT6B Patient Registry

Krabbe Disease

KrabbeCURES

L-Arginine: Glycine Amidinotransferase Deficiency

CreatineInfo Registry

LGMD2A/Calpainopathy

LGMD2A/Calpainopathy Registry

McCune-Albright Syndrome

FD/MAS Patient Registry

MLD

Metachromatic Leukodystrophy Community United Research and Engagement Survey (MLDCures)

mucopolysaccharide & related diseases

The Canadian MPS Registry

Nevoid Basal Cell Carcinoma Syndrome

Gorlin Syndrome Alliance Patient Registry

Ocular Melanoma

INSIGHT

Opsoclonus-Myoclonus Syndrome

OMS Patient Registry

Organic Acidemia

The OAA Natural History Patient Registry

Peroxisomal Disorders

The GFPD Patient Registry for Peroxisomal Disorders

Phenylketonuria

PKU Patient Registry

PKU

The Canadian PKU Registry

PNH

The Global Paroxysmal Nocturnal Hemoglobinuria (PNH) Patient Registry

Prader-Willi Syndrome

Global Prader-Willi Syndrome Registry

rare disease

Living Rare Study

SCN2A-related disorders

SCN2A DRAGONFLY Registry

SCN8A

The Cute Syndrome Foundation Global SCN8A Survey Series

SLC6A8 Deficiency

CreatineInfo Registry

SYNGAP-1

SYNGAP1 (MRD5) Patient Registry

SYS

The Global Schaaf-Yang Syndrome Registry

Tatton-Brown Rahman Syndrome

Tatton Brown Rahman Syndrome Community Patient Registry

Von Hippel-Lindau Disease

MyVHL: Patient Natural History Study

Wolfram syndrome

Wolfram Syndrome Global Patient Registry

X-linked Creatine Transporter Deficiency

CreatineInfo Registry