Selected Publications

Novel Patient-Centered Approach to Clinical Trial Readiness in Rare Diseases. : Sevagamoorthy A, Gavazzi F, Tashnim Z, Hong P, Ylenia V, Lee-Kirsch M, Eleftheriou D, Beerepoot S, Hully M, Berry-Kravis E, Ventola P, Raspa M, Wheeler A, DeMauro S, Glanzman A, Townsend E, Duong, T, Cusack S, Harrington A, Pierce S, Fitzgerald M, Fazzi E, Galli J, Orcesi S, Tonduti D, Wassmer E, Cordova D, Adang L, Butts C, Vanderver A. Value in Health. 2026. ISPOR (eds.). 29(S6), May 2026.

Sevagamoorthy A, Woidill S, Sudilovsky G, Kelley K, Vaia Y, Gavazzi F, Schmidt JL, Pizzino A, D'Aiello R, Uebergang E, Bruschi F, Mirchi A, Abe-Hatano C, Sartorelli J, Nicita F, Cunningham C, Tonduti D, Bertini E, Bernard G, Inoue K, Wolf NI, Adang LA, Shults J, Vanderver A.: Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD). Mol Genet Metab 148: 110154, May 2026.

Pizzino A, Arnold K, Wiener E, Muirhead K, Schmidt J, Dominguez-Gonzalez CA, Banglorewala P, Fraser JL, Ruzhnikov M, Cohen JS, Sherbini O, Logan R, Gavazzi F, Sevagamoorthy A, Vincent A, D'Aiello R, Vanderver A. : Rigorous genetic diagnosis review in natural history studies. Orphanet J Rare Dis 28(21 (1)): 182, April 2026.

Gavazzi F, Woidill S, Sevagamoorthy A, Jawad AF, D'Aiello R, Bradford J, Lerner M, Hong P, White A, Tashnim Z, Cusack SV, Glanzman AM, Harrington A, Waldman AT, Vanderver A, Adang LA. : Design of a Pediatric Low Motor Function Item Battery in leukodystrophies. Mol Genet Metab 147(4): 109866, April 2026.

Cusack SV, Glanzman AM, Gavazzi F, Woidill S, Jawad AF, Estilow T, Waldman AT, Vanderver A, Adang L; Children's Hospital of Philadelphia Leukodystrophy Workgroup.: Performance outcomes of the PEDI-CAT for assessing functional ability in the population with leukodystrophy. Dev Med Child Neurol Apr 2026.

Gavazzi F, Pizzino A, Bally JF, et al. TUBB4A-Related Neurologic Disorders. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A: TUBB4A-Related Neurologic Disorders. GeneReviews® Seattle (WA): University of Washington, Seattle (eds.). March 2026.

Sevagamoorthy A*, Gavazzi F*, Tashnim Z, Hong P, Vaia Y, Lee-Kirsch MA, Eleftheriou D, Beerepoot S, Hully M, Berry Kravis EM, Ventola P, Raspa M, Wheeler A, DeMauro SB, Glanzman AM, Townsend E, Duong T, Cusack S, Harrington AT, Pierce S, Fitzgerald M, Fazzi E, Galli J, Orcesi S, Tonduti D, Wassmer E, Cordova D, Adang LA, Butts C, Vanderver A. *indicates shared first authorship: A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS). Mol Genet Metab. 147(3): 109765, March 2026.

Gavazzi F, Patel V, Erler JA, Charsar B, Vaia Y, Sevagamoorthy A, Vincent A, Woidill S, Wassmer E, Houlden H, Garcia-Cazorla A, Tonduti D, Wolf NI, Van der Knaap M, Bernard G, Adang LA, Vanderver A.: Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective. Pediatr Neurol.(173), 156-165, December 2025.

Gavazzi F, Pierce SR, Smith V, Yang E, Skorup J, Pucci K, Kotes E, Glanzman AM, Cusack SV, Levy T, Dubbs H, Wiener E, Woidill S, Vithayathil J, Jawad A, Thakur N, Adang LA: Functional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN). Mol Genet Metab 146(3): 109253, November 2025.

Gavazzi F, Yu E, Tashnim Z, Woidill S, Sevagamoorthy A, Arnold K, Ammann-Schnell L, Groeschel S, Krägeloh-Mann I, Breitling V, Schlotawa L, Ahrens-Nicklas R, Adang LA. : Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families. J Child Neurol. 40(10): 852-861, November 2025.