Rare Disease Experience

Rare Disease Experience

Formed in 2001, Engage Health’s team has accumulated 25 + years experience in the rare and specialty disease space. The following is just some of the areas worked in:

Antidotes

  • Ethylene Glycol Poisoning
  • Methanol Poisoning

Burns / Wound Care

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Cancer

  • ACC
  • Bone Metastases
  • Bone Marrow/Stem Cell Transplant
  • CLL, NHL
  • Genetically Targeted Cancers (Notch Mutated)
  • Mycosis Fungoides
  • Neuroblastoma
  • Pancreatic Cancer
  • Prostate Cancer
  • TNBC

Cardiovascular /
Hematology

  • Angina
  • Essential Thrombocythemia
  • Hepatic Porphyria
  • HoFH
  • Patent Ductus Arteriosis
  • Recalcitrant Hypertension
  • Rhythm disorders
  • Sickle Cell Anemia
  • Hemophilia Type A

CNS

  • Amyotrophic Lateral Sclerosis (ALS)
  • Alzheimer’s Disease
  • Autism Spectrum Disorder
  • Chronic Intractable Pain
  • Dystonia
  • Frontotemporal Dementia
  • Movement Disorders
  • Narcolepsy
  • Parkinson’s Disease
  • Status Epilepticus
  • Traumatic Brain Injury
  • Dravet Syndrome

Craniofacial

  • Cleft Palate

Endocrine

  • Acromegaly    
  • Amyloidosis    

Gastrointestinal /
Urological

  • Congenital Sucrase Isomaltase Deficiency
  • Crohn’s Disease
  • Cystinosis
  • Cystinuria
  • dRTA; inherited and acquired
  • Esophageal Varices
  • Fecal Impaction
  • Gastroparesis
  • Struvite Stones

Metabolic Disorders

  • AADC Deficiency
  • CPT I, CPT II
  • Creatine Transporter Deficiency (CTD)
  • Fatty Acid Oxidation Disorders (VLCAD, LCHADD, CPT2, CACT)
  • Glucose Transporter Deficiency Type I
  • Glycogen Storage Disorders (GSDs)
  • Hepatic Encephalopathy
  • Homocystinuria
  • Lipodystrophy
  • Mitochondrial Disorders (LCXHAD, MCAD, SCAD, VLCAD)
  • Thymidine Kinase 2 Deficiency (TK2d)
  • NAGs Deficiency
  • Neurofibromatosis Type 1
  • Obesity due to MC4R Defects
  • Urea Cycle Disorders
  • X-Linked Hypophosphatemic Rickets Hypophosphatasia (HPP)

Hepatology

  • Congenital Chronic Cholestasis
  • NAFLD/ NASH

Immunology / Allergy

  • Hereditary Angiodema

Lysosomal Storage Disorders

  • Batten Disease; CLN2, CLN3
  • Fabry
  • Farber Disease
  • Gaucher
  • GM1-Gangliosidosis
  • Huntington Disease
  • Krabbe Disease
  • MPS I, MPS II, MPS III A, MPS III B, MPS VI, MPS VII
  • Neimann Pick Disease (A, AB, B, C – early inf, late inf, juvenile, adult)
  • Nephropathic Cystinosis
  • Pompe
  • Sandhoff Disease
  • Tay Sachs Disease (GM2)
  • Wolman Disease (LAL Deficiency)

Musculoskeletal / Neuromuscular

  • Achondroplasia
  • Duchenne Muscular Dystrophy (DMD)
  • Fibrodysplasia Ossificans Progressiva (FOP)
  • Fracture Repair
  • Hereditary Inclusion Body Myopathy
  • Hereditary Multiple Exostoses/ Osteochondromas
  • Occulopharyngeal Muscular Dystrophy (OPMD)
  • Spinal Fusions
  • Spinal Muscular Atrophy

Ophthalmologic

  • A-AION and P-AION
  • Retinitis Pigmentosa
  • Lebers Congenital Amourosis

Respiratory

  • Asthma
  • COPD
  • Cystic Fibrosis

Surgical Instrumentation

  • Ablation of Liver Tumors
  • Ablation of Pancreatic Tumors

Women’s Health Care

  • Breast Density
  • Diagnostic for Detection of Cervical Cancer
  • Menopause
  • Nausea and Vomiting of Pregnancy
  • Pre and postnatal supplementation
  • Preeclampsia